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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… and approaches currently being developed, such as gene therapy and the use of small molecules. By improving our …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… traits (e.g., height), or molecular traits (e.g., mRNA or protein expression levels). Examples of these kinds …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… and characterization of some cancers and to monitor cancer therapy. … Cell-free DNA testing is a laboratory method that …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
File
… . . . . . . . . . . . . . . . . . . . . . . . 61 3.9 Gene therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . … plementary) molecule called messenger ribonucleic acid (mRNA), which moves from the nucleus to the cytoplasm of a … the appropri- ate order, as directed by the codons of the mRNA (Figure 2.2). Some newly synthesized proteins undergo a …
Educational Resources
Antisense is the non-coding DNA strand of a gene.
… DNA serves as the template for producing messenger RNA (mRNA), which directs the synthesis of a protein. … Antisense …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… who has a special clinic setup for difficult cases of drug therapy adverse events and consults for PGx. In our Oncology …